Mutagenetix > Incidental Mutation

Incidental Mutation 'R6683:Acat2'

527596

Institutional Source

Beutler Lab

Gene Symbol

Acat2

Ensembl Gene

ENSMUSG00000023832

Gene Name

acetyl-Coenzyme A acetyltransferase 2

Synonyms

Tcp-1x, Tcp1-rs1

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6683 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

12942890-12960747 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 12943927 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 377 (R377C)

Ref Sequence

ENSEMBL: ENSMUSP00000007005 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007005] [ENSMUST00000043923] [ENSMUST00000159697] [ENSMUST00000160378]

AlphaFold

Q8CAY6

Predicted Effect

probably benign
Transcript: ENSMUST00000007005
AA Change: R377C

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000007005
Gene: ENSMUSG00000023832
AA Change: R377C

Domain	Start	End	E-Value	Type
Pfam:Thiolase_N	8	267	8e-99	PFAM
Pfam:Thiolase_C	274	396	1.8e-52	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000043923

SMART Domains

Protein: ENSMUSP00000045912
Gene: ENSMUSG00000062480

Domain	Start	End	E-Value	Type
Pfam:Thiolase_N	8	267	2.9e-97	PFAM
Pfam:Thiolase_C	274	396	1.3e-52	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159358

Predicted Effect

probably benign
Transcript: ENSMUST00000159697
AA Change: R345C

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000125066
Gene: ENSMUSG00000023832
AA Change: R345C

Domain	Start	End	E-Value	Type
Pfam:Thiolase_N	1	235	3.9e-91	PFAM
Pfam:Thiolase_C	242	364	2.4e-53	PFAM
Pfam:ACP_syn_III_C	273	364	9.7e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160378

SMART Domains

Protein: ENSMUSP00000125454
Gene: ENSMUSG00000062480

Domain	Start	End	E-Value	Type
Pfam:Thiolase_N	5	248	5.6e-91	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	T	C	1: 74,282,445	E169G	possibly damaging	Het
Adgrg6	A	G	10: 14,456,167	V398A	probably damaging	Het
BC025920	A	G	10: 81,609,301	H86R	probably damaging	Het
BC028528	T	C	3: 95,888,227	T88A	probably damaging	Het
Creb3l4	T	A	3: 90,237,805	T347S	probably benign	Het
Dhcr7	T	C	7: 143,843,311	V180A	probably damaging	Het
Fam187a	T	C	11: 102,886,189	V273A	probably damaging	Het
Hdgfl3	G	A	7: 81,900,353	R78W	possibly damaging	Het
Krt8	T	C	15: 101,998,004	T357A	probably benign	Het
Lkaaear1	TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG	TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG	2: 181,697,561		probably benign	Het
Ly6d	A	T	15: 74,762,450	V97D	probably benign	Het
Map3k13	T	C	16: 21,892,312	I115T	probably benign	Het
Muc2	G	A	7: 141,751,477	V173I	probably benign	Het
Nck2	T	C	1: 43,569,178	S327P	probably benign	Het
Ncoa7	T	C	10: 30,771,721	R20G	probably damaging	Het
Nlrp4f	G	A	13: 65,199,195	T83I	probably benign	Het
Nploc4	A	G	11: 120,383,330	S546P	probably damaging	Het
Olfr1444	A	G	19: 12,862,650	S292G	probably damaging	Het
Olfr396-ps1	A	G	11: 73,928,113	Y36C	probably damaging	Het
Olfr577	C	T	7: 102,973,713	R93Q	probably benign	Het
Olfr671	C	T	7: 104,975,968	V10I	probably benign	Het
Panx1	T	C	9: 15,008,011	E184G	probably benign	Het
Parp14	T	C	16: 35,834,677	Y1808C	probably damaging	Het
Plcb1	A	T	2: 134,786,593	S21C	probably benign	Het
Ppil6	A	G	10: 41,498,431	N103D	probably benign	Het
Pth1r	C	T	9: 110,727,251		probably null	Het
Rapgef4	A	T	2: 72,054,779		probably benign	Het
Rlf	A	G	4: 121,147,926	S1286P	probably damaging	Het
Rnf217	A	G	10: 31,534,826	V291A	possibly damaging	Het
Serpina3a	T	C	12: 104,119,637	M117T	probably benign	Het
St8sia4	T	C	1: 95,653,699	D106G	probably damaging	Het
Tjp2	A	G	19: 24,120,843	I485T	probably damaging	Het
Trdc	T	C	14: 54,144,235		probably benign	Het
Ttn	A	G	2: 76,710,660	L33994P	probably damaging	Het
Vmn2r42	T	A	7: 8,184,225	K799N	probably damaging	Het
Zfp42	G	A	8: 43,296,056	T136M	possibly damaging	Het
Znhit1	A	T	5: 136,982,633	S109T	probably benign	Het

Other mutations in Acat2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01920:Acat2	APN	17	12944025	missense	probably benign	0.00
R0243:Acat2	UTSW	17	12944021	missense	probably benign
R4153:Acat2	UTSW	17	12952266	missense	possibly damaging	0.88
R4224:Acat2	UTSW	17	12962885	unclassified	probably benign
R4332:Acat2	UTSW	17	12962895	unclassified	probably benign
R6219:Acat2	UTSW	17	12960717	unclassified	probably benign
R6605:Acat2	UTSW	17	12943887	missense	probably benign	0.07
R7313:Acat2	UTSW	17	12960006	missense	probably benign	0.18
R7566:Acat2	UTSW	17	12947459	missense	probably damaging	1.00
R8294:Acat2	UTSW	17	12956356	missense	probably benign	0.03
R9098:Acat2	UTSW	17	12960092	start gained	probably benign
R9341:Acat2	UTSW	17	12948651	missense	probably damaging	0.99
R9343:Acat2	UTSW	17	12948651	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCCTTGGGTGTCTCACATTAAAG -3'
(R):5'- TCGAAAGGATGGTTTGCTAGC -3'

Sequencing Primer
(F):5'- GGGTGTCTCACATTAAAGTACAGC -3'
(R):5'- TTGCTAGCATAACACTGCGG -3'

Posted On

2018-07-23